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Hyperkalemic periodic paralysis

MedGen UID:
996028
•Concept ID:
CN315581
•
Disease or Syndrome
Synonyms: Adynamia episodica hereditaria; Familial hyperkalemic periodic paralysis; Familial hyperPP; Gamstorp disease; Gamstorp episodic adynamy; Hyperkalemic PP; HyperKPP; HyperPP; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Orphanet: ORPHA682

Definition

A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperkalemic periodic paralysis

Professional guidelines

PubMed

Lessons learned from muscle fatigue: implications for treatment of patients with hyperkalemic periodic paralysis.
Renaud JM, Hayward LJ
Recent Pat Biotechnol 2012 Dec;6(3):184-91. doi: 10.2174/1872208311206030184. PMID: 23092434
Treatment for periodic paralysis.
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
Jurkat-Rott K, Lehmann-Horn F
Neurotherapeutics 2007 Apr;4(2):216-24. doi: 10.1016/j.nurt.2007.02.001. PMID: 17395131

Recent clinical studies

Etiology

Pediatric neuromuscular channelopathies.
Vivekanandam V, Munot P, Jayaseelan DL
Handb Clin Neurol 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. PMID: 39174243
Periodic paralysis.
Fialho D, Griggs RC, Matthews E
Handb Clin Neurol 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6. PMID: 29478596
Muscle channelopathies.
Saperstein DS
Semin Neurol 2008 Apr;28(2):260-9. doi: 10.1055/s-2008-1062262. PMID: 18351527
Treatment for periodic paralysis.
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068
Inherited ion channel disorders.
Surtees R
Eur J Pediatr 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. PMID: 11216900

Diagnosis

Pediatric neuromuscular channelopathies.
Vivekanandam V, Munot P, Jayaseelan DL
Handb Clin Neurol 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. PMID: 39174243
Muscle channelopathies.
Vivekanandam V, Jayaseelan D, Hanna MG
Handb Clin Neurol 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. PMID: 37562884
Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Periodic paralysis.
Fontaine B
Adv Genet 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8. PMID: 19185183
Muscle channelopathies.
Saperstein DS
Semin Neurol 2008 Apr;28(2):260-9. doi: 10.1055/s-2008-1062262. PMID: 18351527

Therapy

Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Dichlorphenamide (Keveyis) for periodic paralysis.
Med Lett Drugs Ther 2016 Apr 11;58(1492):50. PMID: 27049510
Treatment for periodic paralysis.
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068
Molecular basis for hyperkalemic periodic paralysis.
Brown RH Jr
Int J Neurol 1991-1992;25-26:89-96. PMID: 11980067
Hyperkalemic periodic paralysis.
Layzer RB, Lovelace RE, Rowland LP
Arch Neurol 1967 May;16(5):455-72. doi: 10.1001/archneur.1967.00470230007002. PMID: 6022527

Prognosis

Hyperkalemic periodic paralysis with paramyotonia and the anaesthetic implications.
Sender D, Doyal A
BMJ Case Rep 2023 Jan 3;16(1) doi: 10.1136/bcr-2022-251699. PMID: 36596627Free PMC Article
A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature.
Colucci MC, Triolo MF, Petrucci S, Pugnaloni F, Corsino M, Evangelisti M, D'Asdia MC, Di Nardo G, Garibaldi M, Terrin G, Parisi P
Ital J Pediatr 2022 Jul 15;48(1):116. doi: 10.1186/s13052-022-01315-5. PMID: 35841048Free PMC Article
Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients.
Jeong HN, Yi JS, Lee YH, Lee JH, Shin HY, Choi YC, Kim SM
Neuromuscul Disord 2018 Oct;28(10):837-845. Epub 2018 Jun 30 doi: 10.1016/j.nmd.2018.06.008. PMID: 30172468
Thyroid disease and the nervous system.
Wood-Allum CA, Shaw PJ
Handb Clin Neurol 2014;120:703-35. doi: 10.1016/B978-0-7020-4087-0.00048-6. PMID: 24365348
Skeletal muscle channelopathies.
Jurkat-Rott K, Lerche H, Lehmann-Horn F
J Neurol 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5. PMID: 12420087

Clinical prediction guides

Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.
Vivekanandam V, Suetterlin K, Matthews E, Thornton J, Jayaseelan D, Shah S, Morrow JM, Yousry T, Hanna MG
Muscle Nerve 2023 Oct;68(4):439-450. Epub 2023 Jul 28 doi: 10.1002/mus.27947. PMID: 37515374
The Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis.
Welland NL, Hæstad H, Fossmo HL, Giltvedt K, Ørstavik K, Nordstrøm M
J Neuromuscul Dis 2021;8(4):457-468. doi: 10.3233/JND-200604. PMID: 33646174Free PMC Article
Skeletal muscle channelopathies.
Jurkat-Rott K, Lerche H, Lehmann-Horn F
J Neurol 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5. PMID: 12420087
Periodic paralysis: understanding channelopathies.
Lehmann-Horn F, Jurkat-Rott K, Rüdel R
Curr Neurol Neurosci Rep 2002 Jan;2(1):61-9. doi: 10.1007/s11910-002-0055-9. PMID: 11898585
Molecular basis for hyperkalemic periodic paralysis.
Brown RH Jr
Int J Neurol 1991-1992;25-26:89-96. PMID: 11980067

Recent systematic reviews

Treatment for periodic paralysis.
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068

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